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GLOSSARY
Apoptosis: the death of cells which occurs as a normal and controlled part of an organism’s growth
or development.
Biobank: an organisation that collects, stores, and analyses biospecimens, making the results
available to research organisations investigating new treatments for diseases
Biomaterial: means any Specimen, SD, CD, SMD or Progeny
Biomarker: a naturally occurring molecule, gene, or characteristic by which a particular pathological
or physiological process, disease, etc. can be identified.
Biorepository: a repository (storage centre) for biological materials
Biospecimen: unprocessed biological material collected directly from donors such as blood or tissue
(the average quantity of a biospecimen is about 10 ml)
Chromosome: a structure carrying DNA wrapped around proteins to help maintain its shape
Complex Derivative (CD):
any derivative prepared through complex multi-step laboratory
manipulations from a Specimen or SD, with or without addition of chemical substances, such as
isolated viruses, isolated bacteria, metabolites, DNA, RNA, PBMCs, fibroblast culture, sorted cells and
FFPE tissue.
DNA: Deoxyribonucleic acid, the molecule that carries genetic information
Epidemiologist: a person who is studying the branch of medicine which deals with the incidence,
distribution, and possible control of diseases and other factors relating to health.
Gene: A specific section of DNA within a chromosome
Genome: The entirety of an individual’s genetic information
Genotype: An individual’s genetic makeup
Material: any Biomaterial, models, samples, materials, goods, software, chemical or biological
reagents and prototypes
Metabolic: relating to or deriving from the processes that occur within a living organism in order to
maintain life
Microarray: a set of DNA sequences representing the entire set of genes of an organism, arranged in
a grid pattern for use in genetic testing.
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miRNA: a cellular RNA fragment that prevents the production of a particular protein by binding to
and destroying the messenger RNA that would have produced the protein.
Mutation: the changing of the structure of a gene, resulting in a variant form which may be
transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the
deletion, insertion, or rearrangement of larger sections of genes or chromosomes
Nucleotide: a compound consisting of a nucleoside linked to a phosphate group. Nucleotides form
the basic structural unit of nucleic acids such as DNA
Pathophysiology: the disordered physiological processes associated with disease or injury
PCR (polymerase chain reaction): a method of making multiple copies of a DNA sequence, involving
repeated reactions with a polymerase.
Personalised Medicine: care that is targeted and tailored to a specific individual’s needs. This
represents a move away from traditional approaches to medicine, which use a more ‘one-size-fits-all’
approach, to one that has the potential to be more efficient and cost effective
Phenotypic: relating to or deriving from the set of observable characteristics of an individual
resulting from the interaction of its genes with the environment
Plasma: the liquid component of blood in which blood cells are held in suspension
Progeny: any unmodified descendant from a renewable CD, such as virus from virus, cell from cell,
or organism from organism.
Protein: molecules that carry out the necessary functions of the cell
Proteome: the entirety of proteins produced by an individual
Pseudonymisation: the separation of personal information from their associated medical data and
samples at the time of collection.
RNA: ribonucleic acid, a nucleic acid present in all living cells. Its principal role is to act as a
messenger carrying instructions from DNA for controlling the synthesis of proteins, although in some
viruses RNA rather than DNA carries the genetic information.
Sample: any container containing Biomaterial. They could be pieces of tissue, plasma, serum, PMBC,
DNA, or RNA.
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Serum: The liquid component of blood (plasma) with a certain class of proteins (fibrinogens,
responsible for clotting) removed
Simple Derivative (SD): any derivative prepared by simple laboratory manipulations from a
Specimen, without addition of chemical substances, such as plasma, serum, buffy coat, homogenized
tissue or urine pellet.
SNP: Nucleotides which vary between individuals are known as Single Nucleotide Polymorphism, or
SNPs. Sometimes these differences have no effect on the way their body functions, but others, they
can lead to a change in body function which may make them more likely to develop a disease.
Specimen: any single specific amount of human biological material collected from a single subject or
donor at a specific time, such as blood, urine, stool, CSF, skin biopsy.
Substantially Modified Derivative: a derivative of an SD or CD whose molecular structure and/or its
associated molecular pathways are not found in the source Specimen, SD or CD, such as
immortalized cell lines, iPSCs, genetically modified micro-organisms and hybridomas
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